Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.
Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous, and retinal cavernomas in a family found to harbor a nonsense mutation of the CCM1 gene.
Labowsky, MT; Walter, SD; McDonald, MT; Mruthyunjaya, P
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